A recessive form of the Ehlers-Danlos syndrome caused by tenascin-X deficiency. - Wikidata - wikimedia - TriplyDB

A recessive form of the Ehlers-Danlos syndrome caused by tenascin-X deficiency.

A recessive form of the Ehlers-Danlos syndrome caused by tenascin-X deficiency.

http://www.wikidata.org/entity/Q34098081

about

Ehlers-Danlos syndrome type IV Ehlers-danlos syndrome, hypermobility type: an underdiagnosed hereditary connective tissue disorder with mucocutaneous, articular, and systemic manifestations Order of intron removal influences multiple splice outcomes, including a two-exon skip, in a COL5A1 acceptor-site mutation that results in abnormal pro-alpha1(V) N-propeptides and Ehlers-Danlos syndrome type I The molecular biology, biochemistry, and physiology of human steroidogenesis and its disorders Analysis of obstetric complications and uterine connective tissue in tenascin-X-deficient humans and mice Transcriptional regulation of tenascin genes Lysyl Oxidase Activity Is Required for Ordered Collagen Fibrillogenesis by Tendon Cells Hereditary equine regional dermal asthenia ("hyperelastosis cutis") in 50 horses: clinical, histological, immunohistological and ultrastructural findings Wound healing in tenascin-X deficient mice suggests that tenascin-X is involved in matrix maturation rather than matrix deposition A mouse model for dominant collagen VI disorders: heterozygous deletion of Col6a3 Exon 16 Tenascin-X promotes epithelial-to-mesenchymal transition by activating latent TGF-β Matricellular proteins in the trabecular meshwork: review and update.Ehlers-Danlos syndrome with severe early-onset periodontal disease (EDS-VIII) is a distinct, heterogeneous disorder with one predisposition gene at chromosome 12p13.Haploinsufficiency of TNXB is associated with hypermobility type of Ehlers-Danlos syndrome.Rare autosomal recessive cardiac valvular form of Ehlers-Danlos syndrome results from mutations in the COL1A2 gene that activate the nonsense-mediated RNA decay pathway.Nonclassic congenital adrenal hyperplasia Defective initiation of glycosaminoglycan synthesis due to B3GALT6 mutations causes a pleiotropic Ehlers-Danlos-syndrome-like connective tissue disorder.Open angle glaucoma in a case of Type IV Ehler Danlos syndrome: a rarely reported association.Noticeable decreased expression of tenascin-X in calcific aortic valves.First mouse model for combined osteogenesis imperfecta and Ehlers-Danlos syndrome.A proteomics platform combining depletion, multi-lectin affinity chromatography (M-LAC), and isoelectric focusing to study the breast cancer proteome Revisiting the matricellular concept.Matricellular proteins in cardiac adaptation and disease.Tenascin-X: beyond the architectural function Secretome Identifies Tenascin-X as a Potent Marker of Ovarian Cancer.Gene copy-number variation and associated polymorphisms of complement component C4 in human systemic lupus erythematosus (SLE): low copy number is a risk factor for and high copy number is a protective factor against SLE susceptibility in European A Broadening the Spectrum of Ehlers Danlos Syndrome in Patients With Congenital Adrenal Hyperplasia Bleeding and bruising in patients with Ehlers-Danlos syndrome and other collagen vascular disorders.Ehlers-Danlos Syndrome associated with cardiomyopathy hypertrophic obstructive.Asthma and airways collapse in two heritable disorders of connective tissue Bruch's membrane abnormalities in PRDM5-related brittle cornea syndrome.Periventricular heterotopia: new insights into Ehlers-Danlos syndrome Human cytochromes P450 in health and disease Modulation of glycan detection on specific glycoproteins by lectin multimerization.Tenascin-X haploinsufficiency associated with Ehlers-Danlos syndrome in patients with congenital adrenal hyperplasia.Tendon and ligament injuries: the genetic component.Hereditary dentin defects.Clinical and molecular characterization of 40 patients with classic Ehlers-Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations COL6A3 protein deficiency in mice leads to muscle and tendon defects similar to human collagen VI congenital muscular dystrophy.Tenascin-X, collagen, and Ehlers-Danlos syndrome: tenascin-X gene defects can protect against adverse cardiovascular events

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P2860

A recessive form of the Ehlers-Danlos syndrome caused by tenascin-X deficiency.

http://www.wikidata.org/entity/Q34098081

description

2001 nî lūn-bûn

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2001 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած

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2001 թվականի հոտեմբերին հրատարակված գիտական հոդված

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2001年の論文

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2001年学术文章

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2001年学术文章

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2001年学术文章

@zh-hans

2001年学术文章

@zh-my

2001年学术文章

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2001年學術文章

@yue

name

A recessive form of the Ehlers-Danlos syndrome caused by tenascin-X deficiency.

@ast

A recessive form of the Ehlers-Danlos syndrome caused by tenascin-X deficiency.

@en

A recessive form of the Ehlers-Danlos syndrome caused by tenascin-X deficiency.

@nl

type

label

A recessive form of the Ehlers-Danlos syndrome caused by tenascin-X deficiency.

@ast

A recessive form of the Ehlers-Danlos syndrome caused by tenascin-X deficiency.

@en

A recessive form of the Ehlers-Danlos syndrome caused by tenascin-X deficiency.

@nl

prefLabel

A recessive form of the Ehlers-Danlos syndrome caused by tenascin-X deficiency.

@ast

A recessive form of the Ehlers-Danlos syndrome caused by tenascin-X deficiency.

@en

A recessive form of the Ehlers-Danlos syndrome caused by tenascin-X deficiency.

@nl

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P1433

The New England Journal of Medicine

P1476

A recessive form of the Ehlers-Danlos syndrome caused by tenascin-X deficiency.

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P2093

Bristow J

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Dean WB

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Miller WL

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Schalkwijk J

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Steijlen PM

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Taylor G

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Zweers MC

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van Haren B

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van Vlijmen IM

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1167-1175

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scholarly article

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10.1056/NEJMOA002939

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16

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345

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2001-10-01T00:00:00Z

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11642233

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Ehlers-Danlos syndrome